The tuberous sclerosis complex (TSC), a multisystem, autosomaldominant disorder affecting children and adults, results frommutations in one of two genes, TSC1 (encoding hamartin) or TSC2(encoding tuberin) (see the Glossary). First described in depthby Bourneville in 1880,1 TSC often causes disabling neurologicdisorders, including epilepsy, mental retardation, and autism.Additional major features of the disease include dermatologicmanifestations such as facial angiofibromas, renal angiomyolipomas,and pulmonary lymphangiomyomatosis. TSC has a wide clinicalspectrum of disease, and many patients have minimal signs andsymptoms with no neurologic disability. With the discovery ofthe two genes responsible for TSC . . . [Full Text of this Article]
Clinical Features and Diagnosis
Renal Lesions
Pulmonary Manifestations
Neurologic Manifestations
Cardiac Lesions
Molecular Genetics
Functions of TSC1 and TSC2
TSC Proteins and Interacting Factors
TSC1TSC2 Signaling and Clinical Manifestations of TSC
Aberrant Differentiation in Renal Angiomyolipomas
The "Benign Metastasis" Hypothesis
Cell-Selective Activation of mTOR in Tubers and Subependymal Giant-Cell Tumors
Practical Management
Therapeutic Developments
Conclusions
Source Information
From the Department of Neurology (P.B.C.) and the Division of Medical Genetics (K.L.N.), University of Pennsylvania Medical Center; and the Department of Medical Oncology, Fox Chase Cancer Center (E.P.H.) both in Philadelphia. Drs. Crino and Henske contributed equally to this article.
Address reprint requests to Dr. Crino at the Department of Neurology, 3 West Gates Bldg., 3400 Spruce St., University of Pennsylvania Medical Center, Philadelphia, PA 19104, or at peter.crino@uphs.upenn.edu.
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The Tuberous Sclerosis Complex
de Vries P. J., Prather P. A., Lipsker D., Konstantinopoulos P. A., Papavassiliou A. G., Crino P. B., Nathanson K. L., Henske E. P.
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N Engl J Med 2007;
356:92-94, Jan 4, 2007.
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